{
    "disease_id": "DOID:0080454",
    "recommended_name": {
        "id": "DOID:0080454",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080454",
        "name": "early infantile epileptic encephalopathy 42",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "epileptic encephalopathy, early infantile, 42",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene."
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "epileptic encephalopathy, early infantile, type 42",
            "description": ""
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "CACNA1A early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "EIEE42",
            "description": ""
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A",
            "description": ""
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "epileptic encephalopathy, early infantile, 42; EIEE42",
            "description": ""
        },
        {
            "id": "MONDO:0014917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014917",
            "name": "epileptic encephalopathy, early infantile, 42",
            "description": ""
        },
        {
            "id": "MIM:617106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617106",
            "name": "Developmental and epileptic encephalopathy 42",
            "description": "Developmental and epileptic encephalopathy 42"
        }
    ]
}